TGFBR2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogeni - ClinVar

Search results

Items: 96

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17022941.	NM_003242.6(TGFBR2):c.363C>A (p.Cys121Ter) GRCh37: Chr3:30691861 GRCh38: Chr3:30650369	TGFBR2	C121, C146, C130, C86	Ehlers-Danlos syndrome	Likely pathogenic (Oct 1, 2019)	criteria provided, single submitter
Select item 6242142.	NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) GRCh37: Chr3:30713432 GRCh38: Chr3:30671940	TGFBR2	G278S, G253S, G289S, G314S, G133S, G218S, G158S, G254S, G262S	not provided	Likely pathogenic (Jul 1, 2018)	criteria provided, single submitter
Select item 2634123.	NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) GRCh37: Chr3:30713506 GRCh38: Chr3:30672014	TGFBR2	K277N, K302N, K182N, K242N, K286N, K313N, K278N, K157N, K338N	Cardiovascular phenotype	Pathogenic (Apr 30, 2013)	criteria provided, single submitter
Select item 1653914.	NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) GRCh37: Chr3:30713534 GRCh38: Chr3:30672042	TGFBR2	W287R, W312R, W288R, W296R, W252R, W348R, W167R, W192R, W323R	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12970035.	NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser) GRCh37: Chr3:30713535 GRCh38: Chr3:30672043	TGFBR2	W287S, W312S, W167S, W252S, W192S, W288S, W323S, W348S, W296S	Loeys-Dietz syndrome 2	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 125056.	NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) GRCh37: Chr3:30713598 GRCh38: Chr3:30672106	TGFBR2	L308P, L333P, L213P, L188P, L273P, L309P, L317P, L344P, L369P	Loeys-Dietz syndrome 2	Pathogenic (Apr 1, 2010)	no assertion criteria provided
Select item 14561747.	NM_003242.6(TGFBR2):c.961T>G (p.Tyr321Asp) GRCh37: Chr3:30713636 GRCh38: Chr3:30672144	TGFBR2	Y321D, Y346D, Y201D, Y330D, Y226D, Y286D, Y322D, Y357D, Y382D	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 2139188.	NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln) GRCh37: Chr3:30713673 GRCh38: Chr3:30672181	TGFBR2	L333Q, L358Q, L238Q, L334Q, L369Q, L213Q, L342Q, L298Q, L394Q	not provided	Likely pathogenic (Dec 29, 2014)	criteria provided, single submitter
Select item 4775329.	NM_003242.6(TGFBR2):c.1006T>G (p.Tyr336Asp) GRCh37: Chr3:30713681 GRCh38: Chr3:30672189	TGFBR2	Y336D, Y361D, Y241D, Y345D, Y397D, Y216D, Y337D, Y301D, Y372D	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 1250810.	NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn) GRCh37: Chr3:30713681 GRCh38: Chr3:30672189	TGFBR2	Y336N, Y361N, Y216N, Y372N, Y397N, Y301N, Y345N, Y241N, Y337N	Loeys-Dietz syndrome 2	Pathogenic (Mar 1, 2005)	no assertion criteria provided
Select item 52202011.	NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg) GRCh37: Chr3:30713726 GRCh38: Chr3:30672234	TGFBR2	G351R, G376R, G256R, G387R, G316R, G231R, G352R, G360R, G412R	Inborn genetic diseases	Likely pathogenic (Oct 3, 2017)	criteria provided, single submitter
Select item 22283912.	NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) GRCh37: Chr3:30713727 GRCh38: Chr3:30672235	TGFBR2	G351D, G376D, G231D, G352D, G316D, G387D, G412D, G256D, G360D	Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Feb 14, 2017)	criteria provided, multiple submitters, no conflicts
Select item 17770413.	NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) GRCh37: Chr3:30713742 GRCh38: Chr3:30672250	TGFBR2	R356P, R381P, R236P, R357P, R321P, R417P, R365P, R392P, R261P	Loeys-Dietz syndrome 2, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1251014.	NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp) GRCh37: Chr3:30713744 GRCh38: Chr3:30672252	TGFBR2	G357W, G382W, G237W, G262W, G322W, G358W, G366W, G418W, G393W	Loeys-Dietz syndrome 2	Pathogenic (Mar 1, 2005)	no assertion criteria provided
Select item 21392115.	NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) GRCh37: Chr3:30713760 GRCh38: Chr3:30672268	TGFBR2	H362R, H387R, H327R, H398R, H363R, H423R, H267R, H242R, H371R	not provided	Likely pathogenic (May 20, 2014)	criteria provided, single submitter
Select item 133284316.	NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg) GRCh37: Chr3:30713777 GRCh38: Chr3:30672285	TGFBR2	C368R, C393R, C273R, C333R, C377R, C429R, C248R, C404R, C369R	Loeys-Dietz syndrome 2	Likely pathogenic	criteria provided, single submitter
Select item 120994217.	NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu) GRCh37: Chr3:30713789 GRCh38: Chr3:30672297	TGFBR2	K372E, K397E, K337E, K373E, K277E, K381E, K408E, K252E, K433E	not provided	Likely pathogenic	no assertion criteria provided
Select item 21392218.	NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) GRCh37: Chr3:30713795 GRCh38: Chr3:30672303	TGFBR2	P374S, P399S, P383S, P375S, P435S, P279S, P410S, P254S, P339S	not provided	Likely pathogenic (Jan 2, 2015)	criteria provided, single submitter
Select item 54389419.	NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg) GRCh37: Chr3:30713805 GRCh38: Chr3:30672313	TGFBR2	H377R, H402R, H282R, H257R, H342R, H413R, H378R, H386R, H438R	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 210444720.	NM_003242.6(TGFBR2):c.1133G>A (p.Arg378Lys) GRCh37: Chr3:30713808 GRCh38: Chr3:30672316	TGFBR2	R283K, R343K, R387K, R439K, R379K, R378K, R403K, R258K, R414K	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 102859121.	NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) GRCh37: Chr3:30713809 GRCh38: Chr3:30672317	TGFBR2	R378S, R403S, R258S, R283S, R343S, R379S, R414S, R387S, R439S	Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus, Loeys-Dietz syndrome 2	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26355922.	NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val) GRCh37: Chr3:30713811 GRCh38: Chr3:30672319	TGFBR2	D379V, D404V, D344V, D380V, D284V, D440V, D415V, D259V, D388V	Cardiovascular phenotype	Pathogenic (Jun 5, 2013)	criteria provided, single submitter
Select item 151429223.	NM_003242.6(TGFBR2):c.1152T>G (p.Asn384Lys) GRCh37: Chr3:30713827 GRCh38: Chr3:30672335	TGFBR2	N409K, N384K, N349K, N289K, N385K, N393K, N445K, N264K, N420K	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 167989524.	NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg) GRCh37: Chr3:30713852 GRCh38: Chr3:30672360	TGFBR2	C393R, C418R, C273R, C429R, C454R, C358R, C394R, C298R, C402R	Loeys-Dietz syndrome 2	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 26426025.	NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr) GRCh37: Chr3:30713853 GRCh38: Chr3:30672361	TGFBR2	C393Y, C418Y, C273Y, C358Y, C402Y, C429Y, C454Y, C298Y, C394Y	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26439726.	NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) GRCh37: Chr3:30713864 GRCh38: Chr3:30672372	TGFBR2	D397N, D422N, D406N, D302N, D458N, D277N, D433N, D362N, D398N	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Dec 27, 2017)	criteria provided, single submitter
Select item 145851027.	NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) GRCh37: Chr3:30713915 GRCh38: Chr3:30672423	TGFBR2	A414P, A439P, A294P, A379P, A475P, A319P, A415P, A423P, A450P	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93272628.	NM_003242.6(TGFBR2):c.1241C>T (p.Ala414Val) GRCh37: Chr3:30713916 GRCh38: Chr3:30672424	TGFBR2	A414V, A439V, A450V, A294V, A319V, A475V, A379V, A415V, A423V	not provided	Likely pathogenic (Apr 1, 2020)	criteria provided, single submitter
Select item 176176129.	NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu) GRCh37: Chr3:30715597 GRCh38: Chr3:30674105	TGFBR2	V420L, V428L, V299L, V324L, V455L, V419L, V444L, V384L, V480L	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Oct 29, 2020)	criteria provided, single submitter
Select item 21392730.	NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) GRCh37: Chr3:30715597 GRCh38: Chr3:30674105	TGFBR2	V419L, V444L, V299L, V324L, V420L, V428L, V455L, V384L, V480L	Familial thoracic aortic aneurysm and aortic dissection, not provided	Likely pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21392831.	NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu) GRCh37: Chr3:30715598 GRCh38: Chr3:30674106	TGFBR2	V419E, V444E, V384E, V420E, V480E, V428E, V455E, V299E, V324E	not provided	Likely pathogenic (Nov 8, 2013)	criteria provided, single submitter
Select item 47753732.	NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val) GRCh37: Chr3:30715601 GRCh38: Chr3:30674109	TGFBR2	G445V, G420V, G385V, G421V, G429V, G456V, G300V, G325V, G481V	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 26339933.	NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala) GRCh37: Chr3:30715603 GRCh38: Chr3:30674111	TGFBR2	T421A, T446A, T386A, T326A, T430A, T482A, T301A, T457A, T422A	Cardiovascular phenotype	Pathogenic (Jul 1, 2013)	criteria provided, single submitter
Select item 23952834.	NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys) GRCh37: Chr3:30715613 GRCh38: Chr3:30674121	TGFBR2	Y424C, Y449C, Y433C, Y329C, Y304C, Y389C, Y425C, Y460C, Y485C	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jan 23, 2016)	criteria provided, single submitter
Select item 21392935.	NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr) GRCh37: Chr3:30715618 GRCh38: Chr3:30674126	TGFBR2	A426T, A451T, A331T, A306T, A391T, A487T, A427T, A435T, A462T	not provided	Pathogenic (Jun 14, 2013)	criteria provided, single submitter
Select item 21393036.	NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp) GRCh37: Chr3:30715619 GRCh38: Chr3:30674127	TGFBR2	A426D, A451D, A487D, A331D, A427D, A462D, A391D, A435D, A306D	not provided	Pathogenic (Jul 8, 2014)	criteria provided, single submitter
Select item 18054037.	NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) GRCh37: Chr3:30715619 GRCh38: Chr3:30674127	TGFBR2	A426V, A451V, A462V, A306V, A427V, A487V, A331V, A391V, A435V	Loeys-Dietz syndrome	Likely pathogenic (Jul 21, 2014)	no assertion criteria provided
Select item 21393138.	NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser) GRCh37: Chr3:30715621 GRCh38: Chr3:30674129	TGFBR2	P427S, P452S, P332S, P436S, P392S, P463S, P488S, P307S, P428S	not provided	Likely pathogenic (Dec 27, 2019)	criteria provided, single submitter
Select item 1251839.	NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu) GRCh37: Chr3:30715622 GRCh38: Chr3:30674130	TGFBR2	P427L, P452L, P332L, P488L, P307L, P392L, P428L, P436L, P463L	Loeys-Dietz syndrome 2	Pathogenic (Aug 24, 2006)	no assertion criteria provided
Select item 85792240.	NM_003242.6(TGFBR2):c.1298G>C (p.Arg433Thr) GRCh37: Chr3:30715640 GRCh38: Chr3:30674148	TGFBR2	R458T, R433T, R398T, R442T, R469T, R494T, R313T, R338T, R434T	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 168772241.	NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys) GRCh37: Chr3:30715643 GRCh38: Chr3:30674151	TGFBR2	M434K, M459K, M339K, M443K, M399K, M470K, M314K, M435K, M495K	Loeys-Dietz syndrome	Pathogenic (Aug 6, 2021)	no assertion criteria provided
Select item 150149942.	NM_003242.6(TGFBR2):c.1314T>G (p.Asn438Lys) GRCh37: Chr3:30715656 GRCh38: Chr3:30674164	TGFBR2	N463K, N438K, N499K, N447K, N343K, N318K, N403K, N439K, N474K	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 20, 2021)	criteria provided, single submitter
Select item 169949043.	NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro) GRCh37: Chr3:30715673 GRCh38: Chr3:30674181	TGFBR2	Q444P, Q469P, Q324P, Q349P, Q445P, Q480P, Q409P, Q453P, Q505P	Loeys-Dietz syndrome 2	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 26544744.	NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) GRCh37: Chr3:30715678 GRCh38: Chr3:30674186	TGFBR2	D446N, D471N, D455N, D482N, D507N, D411N, D326N, D351N, D447N	Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection, not provided, Loeys-Dietz syndrome 1	Pathogenic/Likely pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21393245.	NM_003242.6(TGFBR2):c.1338T>G (p.Asp446Glu) GRCh37: Chr3:30715680 GRCh38: Chr3:30674188	TGFBR2	D446E, D471E, D351E, D411E, D455E, D326E, D447E, D507E, D482E	not provided	Likely pathogenic (Jul 1, 2013)	criteria provided, single submitter
Select item 106697646.	NM_003242.6(TGFBR2):c.1342T>C (p.Tyr448His) GRCh37: Chr3:30715684 GRCh38: Chr3:30674192	TGFBR2	Y448H, Y473H, Y413H, Y449H, Y484H, Y328H, Y457H, Y353H, Y509H	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 28, 2020)	criteria provided, single submitter
Select item 40844447.	NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys) GRCh37: Chr3:30715688 GRCh38: Chr3:30674196	TGFBR2	S449C, S474C, S329C, S414C, S510C, S354C, S450C, S458C, S485C	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Feb 10, 2017)	criteria provided, single submitter
Select item 1250648.	NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe) GRCh37: Chr3:30715688 GRCh38: Chr3:30674196	TGFBR2	S449F, S474F, S458F, S485F, S329F, S354F, S510F, S414F, S450F	Loeys-Dietz syndrome 2	Pathogenic (Aug 1, 2004)	no assertion criteria provided
Select item 147030049.	NM_003242.6(TGFBR2):c.1378C>G (p.Arg460Gly) GRCh37: Chr3:30715720 GRCh38: Chr3:30674228	TGFBR2	R485G, R460G, R340G, R496G, R425G, R469G, R521G, R461G, R365G	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 133277050.	NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser) GRCh37: Chr3:30715720 GRCh38: Chr3:30674228	TGFBR2	R460S, R485S, R469S, R496S, R461S, R365S, R340S, R425S, R521S	Loeys-Dietz syndrome 2	Likely pathogenic	criteria provided, single submitter
Select item 1251451.	NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) GRCh37: Chr3:30715720 GRCh38: Chr3:30674228	TGFBR2	R460C, R485C, R340C, R425C, R469C, R365C, R461C, R496C, R521C	Cardiovascular phenotype, not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133277152.	NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro) GRCh37: Chr3:30715721 GRCh38: Chr3:30674229	TGFBR2	R460P, R485P, R365P, R469P, R425P, R496P, R340P, R521P, R461P	Loeys-Dietz syndrome 2	Likely pathogenic	criteria provided, single submitter
Select item 54390053.	NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu) GRCh37: Chr3:30715721 GRCh38: Chr3:30674229	TGFBR2	R460L, R485L, R425L, R496L, R340L, R521L, R469L, R365L, R461L	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 1251554.	NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) GRCh37: Chr3:30715721 GRCh38: Chr3:30674229	TGFBR2	R460H, R485H, R365H, R425H, R461H, R469H, R340H, R496H, R521H	not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39329955.	NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg) GRCh37: Chr3:30715723 GRCh38: Chr3:30674231	TGFBR2	C461R, C497R, C470R, C366R, C522R, C341R, C426R, C462R	Loeys-Dietz syndrome 2	Pathogenic (Mar 1, 2017)	criteria provided, single submitter
Select item 15583956.	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) GRCh37: Chr3:30715724 GRCh38: Chr3:30674232	TGFBR2	C461Y, C486Y, C470Y, C497Y, C341Y, C426Y, C522Y, C462Y, C366Y	Loeys-Dietz syndrome 2, Inborn genetic diseases	Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98233457.	NM_003242.6(TGFBR2):c.1396+1G>T GRCh37: Chr3:30715739 GRCh38: Chr3:30674247	TGFBR2		Isolated thoracic aortic aneurysm	Likely pathogenic (Sep 1, 2018)	criteria provided, single submitter
Select item 1251658.	NM_003242.6(TGFBR2):c.1397-2A>G GRCh37: Chr3:30729874 GRCh38: Chr3:30688382	TGFBR2		Loeys-Dietz syndrome 2	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 47753859.	NM_003242.6(TGFBR2):c.1397-1G>A GRCh37: Chr3:30729875 GRCh38: Chr3:30688383	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 6, 2017)	criteria provided, single submitter
Select item 21701660.	NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) GRCh37: Chr3:30729887 GRCh38: Chr3:30688395	TGFBR2	Y470D, Y495D, Y180D, Y350D, Y471D, Y506D, Y435D, Y469D, Y375D, Y479D, Y531D	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2	Pathogenic/Likely pathogenic (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83465461.	NM_003242.6(TGFBR2):c.1409A>G (p.Tyr470Cys) GRCh37: Chr3:30729888 GRCh38: Chr3:30688396	TGFBR2	Y470C, Y495C, Y375C, Y469C, Y479C, Y435C, Y180C, Y506C, Y531C, Y350C, Y471C	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 62676962.	NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) GRCh37: Chr3:30729925-30729926 GRCh38: Chr3:30688433-30688434	TGFBR2	V484fs, V509fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Feb 22, 2021)	criteria provided, single submitter
Select item 168625863.	NM_003242.6(TGFBR2):c.1447del (p.Cys483fs) GRCh37: Chr3:30729926 GRCh38: Chr3:30688434	TGFBR2	C483fs, C508fs	Malignant tumor of esophagus	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 1251964.	NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) GRCh37: Chr3:30729962 GRCh38: Chr3:30688470	TGFBR2	R495, R520, R205, R556, R400, R375, R504, R531, R460, R494, R496*	Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2, not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21393465.	NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) GRCh37: Chr3:30729968 GRCh38: Chr3:30688476	TGFBR2	R497, R522, R207, R498, R462, R496, R506, R377, R402, R533, R558*	Familial thoracic aortic aneurysm and aortic dissection, not provided, Connective tissue disorder, Loeys-Dietz syndrome, Loeys-Dietz syndrome 2	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4465766.	NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) GRCh37: Chr3:30729974 GRCh38: Chr3:30688482	TGFBR2	E499, E524, E498, E508, E535, E560, E404, E464, E500, E209, E379*	Loeys-Dietz syndrome	Likely pathogenic (Apr 9, 2012)	criteria provided, single submitter
Select item 65539267.	NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg) GRCh37: Chr3:30729989 GRCh38: Chr3:30688497	TGFBR2	W504R, W529R, W214R, W503R, W505R, W384R, W513R, W540R, W565R, W409R, W469R	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 69468568.	NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) GRCh37: Chr3:30729991 GRCh38: Chr3:30688499	TGFBR2	W504, W529, W214, W505, W384, W513, W409, W469, W503, W540, W565*	Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1250469.	NM_003242.6(TGFBR2):c.1524G>A (p.Gln508_Gly509=) GRCh37: Chr3:30730003 GRCh38: Chr3:30688511	TGFBR2		Loeys-Dietz syndrome 2	Pathogenic (Aug 1, 2017)	criteria provided, single submitter
Select item 51711870.	NM_003242.6(TGFBR2):c.1524+1G>T GRCh37: Chr3:30730004 GRCh38: Chr3:30688512	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic	no assertion criteria provided
Select item 177448671.	NM_003242.6(TGFBR2):c.1524+2T>C GRCh37: Chr3:30730005 GRCh38: Chr3:30688513	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 23952972.	NM_003242.6(TGFBR2):c.1529del (p.Ile510fs) GRCh37: Chr3:30732916 GRCh38: Chr3:30691424	TGFBR2	I510fs, I535fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (May 22, 2016)	criteria provided, single submitter
Select item 40843873.	NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter) GRCh37: Chr3:30732918 GRCh38: Chr3:30691426	TGFBR2	Q536, Q511, Q416, Q510, Q512, Q221, Q476, Q547, Q572, Q391, Q520*	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Dec 19, 2016)	criteria provided, single submitter
Select item 3686674.	NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) GRCh37: Chr3:30732927 GRCh38: Chr3:30691435	TGFBR2	C514R, C539R, C224R, C515R, C394R, C513R, C550R, C419R, C479R, C523R, C575R	Loeys-Dietz syndrome	Likely pathogenic (Aug 18, 2011)	criteria provided, single submitter
Select item 22964975.	NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) GRCh37: Chr3:30732933-30732944 GRCh38: Chr3:30691437-30691448	TGFBR2		Marfan syndrome	Likely pathogenic (Jan 25, 2011)	criteria provided, single submitter
Select item 106697776.	NM_003242.6(TGFBR2):c.1555G>A (p.Glu519Lys) GRCh37: Chr3:30732942 GRCh38: Chr3:30691450	TGFBR2	E519K, E544K, E424K, E520K, E580K, E399K, E484K, E528K, E229K, E518K, E555K	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Apr 22, 2020)	criteria provided, single submitter
Select item 138670377.	NM_003242.6(TGFBR2):c.1558T>C (p.Cys520Arg) GRCh37: Chr3:30732945 GRCh38: Chr3:30691453	TGFBR2	C545R, C520R, C519R, C485R, C529R, C556R, C230R, C425R, C521R, C581R, C400R	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 81125378.	NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg) GRCh37: Chr3:30732948 GRCh38: Chr3:30691456	TGFBR2	W521R, W546R, W231R, W486R, W401R, W520R, W522R, W530R, W557R, W582R, W426R	not specified, Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 244433379.	NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter) GRCh37: Chr3:30732949 GRCh38: Chr3:30691457	TGFBR2	W231, W401, W426, W486, W520, W521, W522, W530, W546, W557, W582*	Loeys-Dietz syndrome 2	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 48763280.	NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) GRCh37: Chr3:30732950 GRCh38: Chr3:30691458	TGFBR2	W521, W546, W530, W486, W231, W401, W426, W557, W520, W522, W582*	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 18054181.	NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) GRCh37: Chr3:30732957 GRCh38: Chr3:30691465	TGFBR2	D524N, D549N, D404N, D234N, D429N, D523N, D525N, D533N, D560N, D489N, D585N	not provided, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Loeys-Dietz syndrome 2	Pathogenic/Likely pathogenic (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149845582.	NM_003242.6(TGFBR2):c.1576G>A (p.Glu526Lys) GRCh37: Chr3:30732963 GRCh38: Chr3:30691471	TGFBR2	E526K, E551K, E491K, E562K, E236K, E527K, E406K, E535K, E431K, E525K, E587K	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1250383.	NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) GRCh37: Chr3:30732963 GRCh38: Chr3:30691471	TGFBR2	E526Q, E551Q, E236Q, E431Q, E491Q, E525Q, E587Q, E562Q, E406Q, E527Q, E535Q	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 106697884.	NM_003242.6(TGFBR2):c.1579G>A (p.Ala527Thr) GRCh37: Chr3:30732966 GRCh38: Chr3:30691474	TGFBR2	A527T, A552T, A237T, A536T, A407T, A492T, A526T, A432T, A528T, A563T, A588T	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Feb 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 170229385.	NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly) GRCh37: Chr3:30732969 GRCh38: Chr3:30691477	TGFBR2	R528G, R553G, R238G, R564G, R408G, R529G, R537G, R493G, R527G, R433G, R589G	Ehlers-Danlos syndrome	Likely pathogenic (Mar 1, 2020)	criteria provided, single submitter
Select item 129954586.	NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser) GRCh37: Chr3:30732969 GRCh38: Chr3:30691477	TGFBR2	R528S, R553S, R238S, R493S, R564S, R527S, R529S, R433S, R408S, R537S, R589S	Loeys-Dietz syndrome 2	Pathogenic (Aug 10, 2021)	criteria provided, single submitter
Select item 1251287.	NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) GRCh37: Chr3:30732969 GRCh38: Chr3:30691477	TGFBR2	R528C, R553C, R493C, R527C, R537C, R529C, R238C, R433C, R564C, R408C, R589C	not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2	Pathogenic (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1251188.	NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) GRCh37: Chr3:30732970 GRCh38: Chr3:30691478	TGFBR2	R528H, R553H, R238H, R408H, R537H, R564H, R589H, R433H, R529H, R493H, R527H	Familial thoracic aortic aneurysm and aortic dissection, not provided, Loeys-Dietz syndrome	Pathogenic (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 177586389.	NM_003242.6(TGFBR2):c.1589C>T (p.Thr530Ile) GRCh37: Chr3:30732976 GRCh38: Chr3:30691484	TGFBR2	T530I, T495I, T529I, T531I, T410I, T555I, T240I, T435I, T539I, T566I, T591I	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (May 9, 2019)	criteria provided, single submitter
Select item 1250190.	NM_003242.6(TGFBR2):c.1601_1602dup (p.Ala535fs) GRCh37: Chr3:30732982-30732983 GRCh38: Chr3:30691490-30691491	TGFBR2	A535fs, A560fs	Colorectal cancer, hereditary nonpolyposis, type 6	Pathogenic (Jun 2, 1995)	no assertion criteria provided
Select item 220332491.	NM_003242.6(TGFBR2):c.1597T>C (p.Cys533Arg) GRCh37: Chr3:30732984 GRCh38: Chr3:30691492	TGFBR2	C532R, C558R, C542R, C569R, C243R, C498R, C533R, C534R, C413R, C438R, C594R	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 177606892.	NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter) GRCh37: Chr3:30732986 GRCh38: Chr3:30691494	TGFBR2	C534, C594, C243, C533, C438, C532, C558, C413, C498, C542, C569*	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jun 12, 2017)	criteria provided, single submitter
Select item 84697493.	NM_003242.6(TGFBR2):c.1603del (p.Ala535fs) GRCh37: Chr3:30732989 GRCh38: Chr3:30691497	TGFBR2	A560fs, A535fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 1250794.	NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) GRCh37: Chr3:30732996 GRCh38: Chr3:30691504	TGFBR2	R537C, R562C, R573C, R598C, R502C, R247C, R417C, R442C, R536C, R538C, R546C	not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2	Pathogenic/Likely pathogenic (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138673295.	NM_003242.6(TGFBR2):c.1610G>C (p.Arg537Pro) GRCh37: Chr3:30732997 GRCh38: Chr3:30691505	TGFBR2	R537P, R562P, R598P, R417P, R442P, R538P, R573P, R247P, R502P, R536P, R546P	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 39314196.	NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His) GRCh37: Chr3:30732997 GRCh38: Chr3:30691505	TGFBR2	R537H, R562H, R536H, R546H, R442H, R417H, R538H, R573H, R598H, R247H, R502H	not provided	Likely pathogenic (Nov 10, 2020)	criteria provided, single submitter

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Items: 96